MCID: SPH010
MIFTS: 43

Sphingolipidosis

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Sphingolipidosis

MalaCards integrated aliases for Sphingolipidosis:

Name: Sphingolipidosis 12 76 53 37 15
Sphingolipidoses 12 53 55 44 73

Classifications:



External Ids:

Disease Ontology 12 DOID:1927
ICD10 33 E75.3
MeSH 44 D013106
NCIt 50 C117254
SNOMED-CT 68 58459009
KEGG 37 H00423
UMLS 73 C0037899

Summaries for Sphingolipidosis

MalaCards based summary : Sphingolipidosis, also known as sphingolipidoses, is related to gaucher's disease and metachromatic leukodystrophy. An important gene associated with Sphingolipidosis is PSAP (Prosaposin), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Miglustat and Sofosbuvir have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and kidney, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 76 Sphingolipidoses (singular "sphingolipidosis") are a class of lipid storage disorders relating to... more...

Related Diseases for Sphingolipidosis

Diseases related to Sphingolipidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 gaucher's disease 32.6 ARSA GBA GBA3 PSAP SCARB2
2 metachromatic leukodystrophy 32.1 ARSA GALC HEXA PSAP
3 tay-sachs disease 31.3 ARSA CTSA GLB1 HEXA HEXB PSAP
4 gaucher disease, type ii 30.2 GBA PSAP
5 infantile krabbe disease 30.0 GALC PSAP
6 gaucher disease, perinatal lethal 30.0 CTSA GBA HEXA
7 niemann-pick disease 30.0 GBA NPC1 NPC2 PSAP SMPD1
8 metachromatic leukodystrophy, late infantile form 30.0 ARSA PSAP
9 metachromatic leukodystrophy, juvenile form 30.0 ARSA PSAP
10 niemann-pick disease type c, severe perinatal form 30.0 NPC1 NPC2
11 niemann-pick disease, type a 30.0 NPC1 NPC2 SMPD1
12 niemann-pick disease type c, late infantile neurologic onset 30.0 NPC1 NPC2
13 metachromatic leukodystrophy, adult form 30.0 ARSA PSAP
14 niemann-pick disease type c, severe early infantile neurologic onset 30.0 NPC1 NPC2
15 niemann-pick disease type c, adult neurologic onset 30.0 NPC1 NPC2
16 niemann-pick disease type c, juvenile neurologic onset 30.0 NPC1 NPC2
17 krabbe disease 29.9 ARSA GALC PSAP
18 inherited metabolic disorder 29.9 ARSA GBA GBA3 GLA HEXA NPC1
19 niemann-pick disease, type b 29.9 HEXA NPC1 NPC2 SMPD1
20 niemann-pick disease, type c2 29.7 NPC1 NPC2 SMPD1
21 gaucher disease, type i 29.7 GBA GBA3 HEXA PSAP SCARB2
22 niemann-pick disease, type c1 29.7 NPC1 NPC2 PSAP SMPD1
23 lipid storage disease 29.0 ARSA GALC GBA GBA3 GLA GLB1
24 multiple sulfatase deficiency 11.4
25 fabry disease 11.4
26 sea-blue histiocyte disease 11.0
27 cerebral lipidosis 10.2 GLB1 HEXA
28 leukodystrophy 10.2 ARSA GALC PSAP
29 acid sphingomyelinase deficiency 10.1 NPC1 SMPD1
30 angiokeratoma 10.1 CTSA GLA
31 mannosidosis, alpha b, lysosomal 10.1 CTSA HEXA
32 neuraminidase deficiency 10.1 CTSA GLB1 PSAP
33 glycoproteinosis 10.1 CTSA GLB1 PSAP
34 galactosialidosis 10.0 CTSA GLB1
35 mucopolysaccharidosis, type vii 10.0 GLB1 HEXA
36 mucopolysaccharidosis iv 10.0 CTSA GLB1
37 sandhoff disease 10.0 HEXA HEXB NPC1
38 inclusion-cell disease 10.0 ARSA CTSA GLB1 PSAP
39 scheie syndrome 10.0 CTSA GLA GLB1 HEXA
40 gaucher disease, type iii 10.0
41 leukodystrophy, hypomyelinating, 3 10.0
42 leukoencephalopathy with vanishing white matter 10.0
43 leukodystrophy, hypomyelinating, 2 10.0
44 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.0
45 gaucher disease, atypical, due to saposin c deficiency 10.0
46 leukodystrophy, hypomyelinating, 4 10.0
47 leukodystrophy, hypomyelinating, 6 10.0
48 leukodystrophy, hypomyelinating, 9 10.0
49 dementia 10.0 ARSA GBA NPC1 NPC2
50 fucosidosis 9.9 CTSA HEXA

Graphical network of the top 20 diseases related to Sphingolipidosis:



Diseases related to Sphingolipidosis

Symptoms & Phenotypes for Sphingolipidosis

GenomeRNAi Phenotypes related to Sphingolipidosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00381-A-1 10.03 GLA SCARB2 SMPD1
2 Decreased viability GR00381-A-2 10.03 SCARB2
3 Decreased viability GR00381-A-3 10.03 SCARB2
4 Decreased viability GR00402-S-2 10.03 ADPRH ARSA ASAH2 BECN1 CTSA GALC
5 no effect GR00402-S-1 9.6 ADPRH ARSA ASAH2 BECN1 CTSA GALC

MGI Mouse Phenotypes related to Sphingolipidosis:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.41 ARSA BECN1 CTSA GALC GBA GLA
2 homeostasis/metabolism MP:0005376 10.39 ARSA ASAH2 BECN1 CTSA GALC GBA
3 growth/size/body region MP:0005378 10.37 BECN1 CTSA GALC GBA GLA GLB1
4 immune system MP:0005387 10.31 ADPRH ARSA BECN1 CTSA GALC GBA
5 cellular MP:0005384 10.29 BECN1 CTSA GALC GBA GLA GLB1
6 hematopoietic system MP:0005397 10.29 ARSA BECN1 CTSA GALC GBA GLB1
7 mortality/aging MP:0010768 10.24 BECN1 CTSA GALC GBA GLA GLB1
8 cardiovascular system MP:0005385 10.22 BECN1 CTSA GALC GBA GLA MCOLN1
9 nervous system MP:0003631 10.17 ARSA BECN1 GALC GBA GLA GLB1
10 liver/biliary system MP:0005370 10.14 CTSA GALC GBA GLA GLB1 HEXA
11 renal/urinary system MP:0005367 9.96 CTSA GALC GLA GLB1 HEXA HEXB
12 reproductive system MP:0005389 9.76 BECN1 CTSA GLB1 HEXA HEXB NPC1
13 respiratory system MP:0005388 9.5 CTSA GBA NPC1 NPC2 PSAP RAB8A
14 vision/eye MP:0005391 9.23 GALC GLA HEXA HEXB MCOLN1 NPC1

Drugs & Therapeutics for Sphingolipidosis

Drugs for Sphingolipidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 178)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 72599-27-0 51634
2
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
3
Ledipasvir Approved Phase 4 1256388-51-8 67505836
4
Ergocalciferol Approved, Nutraceutical Phase 4,Not Applicable 50-14-6 5280793
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
6
1-Deoxynojirimycin Experimental, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 19130-96-2 1374
7 Bone Density Conservation Agents Phase 4,Phase 2,Not Applicable
8 Calciferol Phase 4,Phase 2,Not Applicable
9 Ergocalciferols Phase 4,Not Applicable
10 Micronutrients Phase 4,Phase 2,Not Applicable
11 Vitamins Phase 4,Phase 2,Not Applicable
12 Vitamin D2 Phase 4,Not Applicable
13 Trace Elements Phase 4,Phase 2,Not Applicable
14 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Cardiac Glycosides Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Hepatitis C Antibodies Phase 4
22 Ledipasvir, sofosbuvir drug combination Phase 4
23
Coal tar Approved Phase 3,Phase 2 8007-45-2
24
Eliglustat Approved Phase 3,Phase 2,Phase 1,Not Applicable 491833-29-5 23652731
25 tannic acid Approved Phase 3,Phase 2
26
Benzocaine Approved, Investigational Phase 3,Phase 2 94-09-7, 1994-09-7 2337
27
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
28
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
29
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
30
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
31
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
32
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
33
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
34
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
35 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
36 Prednisolone acetate Phase 2, Phase 3
37 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
38 Methylprednisolone acetate Phase 2, Phase 3
39 Alkylating Agents Phase 2, Phase 3
40 Immunologic Factors Phase 2, Phase 3,Not Applicable
41 Antineoplastic Agents, Alkylating Phase 2, Phase 3
42 Antirheumatic Agents Phase 2, Phase 3
43 Antilymphocyte Serum Phase 2, Phase 3
44
Calcium Carbonate Approved, Investigational Phase 2 471-34-1
45
Alendronate Approved Phase 2 66376-36-1, 121268-17-5 2088
46
Mycophenolic acid Approved Phase 2 24280-93-1 446541
47
Mesna Approved, Investigational Phase 2 3375-50-6 598
48
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
49
alemtuzumab Approved, Investigational Phase 2 216503-57-0
50
leucovorin Approved Phase 1, Phase 2,Phase 2 58-05-9 6006 143

Interventional clinical trials:

(show top 50) (show all 311)
# Name Status NCT ID Phase Drugs
1 Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4 recombinant alpha-galactosidase A
2 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4 Enzyme replacement
3 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed NCT01650779 Phase 4
4 A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4 Taliglucerase alfa
5 A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. Completed NCT00365131 Phase 4 Cerezyme (imiglucerase for injection)
6 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4 Cerezyme
7 A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease Completed NCT00140621 Phase 4 Agalsidase beta
8 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4 Replagal (Agalsidase Alfa);Replagal
9 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00081497 Phase 4
10 A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease Completed NCT00074984 Phase 4
11 Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease Recruiting NCT03702361 Phase 4 VPRIV
12 Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease Recruiting NCT03021941 Phase 4 Elelyso 60 units/kg
13 Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease Recruiting NCT02574286 Phase 4 Velaglucerase alfa
14 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4 miglustat
15 Study of the Effects of Fabrazyme Treatment on Lactation and Infants Recruiting NCT00230607 Phase 4 agalsidase beta
16 Chronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease. Recruiting NCT03721627 Phase 4 Ledipasvir/Sofosbuvir
17 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
18 A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency. Withdrawn NCT00312767 Phase 4 Fabrazyme (agalsidase beta)
19 Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
20 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
21 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
22 A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease Completed NCT01422187 Phase 3 Taliglucerase alfa
23 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3 Taliglucerase alfa
24 A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease Completed NCT01298141 Phase 3
25 Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease Completed NCT01218659 Phase 3 migalastat hydrochloride
26 Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease Completed NCT01124643 Phase 3
27 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE) Completed NCT01074944 Phase 3 Eliglustat tartrate
28 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE) Completed NCT00943111 Phase 3 Eliglustat tartrate;Imiglucerase
29 Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease Completed NCT00925301 Phase 3 migalastat hydrochloride;Placebo
30 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
31 Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease Completed NCT00864851 Phase 3
32 Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase Completed NCT00712348 Phase 3 Taliglucerase alfa
33 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial Completed NCT00705939 Phase 3 Taliglucerase alfa
34 A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms Completed NCT00701415 Phase 3
35 Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses Completed NCT00672022 Phase 3 Zavesca (Miglustat)
36 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
37 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
38 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
39 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
40 A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease Completed NCT00376168 Phase 3 Plant cell expressed recombinant glucocerebrosidase (prGCD);Plant cell expressed recombinant glucocerebrosidase (prGCD)
41 Clinical Study to Evaluate the Long Term Efficacy, Safety and Tolerability of Miglustat in Patients With Stable Type 1 Gaucher Disease Completed NCT00319046 Phase 3 Miglustat
42 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
43 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00074971 Phase 3 Fabrazyme (agalsidase beta)
44 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
45 A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease Recruiting NCT03737214 Phase 3 Lucerastat
46 Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years) Recruiting NCT03500094 Phase 3 migalastat HCl 150 mg
47 Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3 Recruiting NCT03485677 Phase 3 Eliglustat GZ385660;Imiglucerase GZ437843
48 Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease Recruiting NCT03425539 Phase 3 Lucerastat;Placebo
49 Study of the Safety, Efficacy, & PK of Pegunigalsidase Alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients Recruiting NCT03180840 Phase 3
50 Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function Recruiting NCT02795676 Phase 3

Search NIH Clinical Center for Sphingolipidosis

Cochrane evidence based reviews: sphingolipidoses

Genetic Tests for Sphingolipidosis

Anatomical Context for Sphingolipidosis

MalaCards organs/tissues related to Sphingolipidosis:

41
Brain, Skin, Kidney, Spinal Cord, Eye

Publications for Sphingolipidosis

Articles related to Sphingolipidosis:

(show top 50) (show all 77)
# Title Authors Year
1
Niemann-Pick type C disease: The atypical sphingolipidosis. ( 30205942 )
2018
2
In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses. ( 30384423 )
2018
3
Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS. ( 27533120 )
2017
4
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. ( 28749998 )
2017
5
Recent advances and novel treatments for sphingolipidoses. ( 28857617 )
2017
6
Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses. ( 27605553 )
2016
7
Fluid levity of the cell: Role of membrane lipid architecture in genetic sphingolipidoses. ( 27638586 )
2016
8
Synaptic failure: The achilles tendon of sphingolipidoses. ( 27638588 )
2016
9
Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses. ( 27717417 )
2016
10
Visualization of the heterogeneous membrane distribution of sphingomyelin associated with cytokinesis, cell polarity, and sphingolipidosis. ( 25389132 )
2014
11
From sheep to mice to cells: tools for the study of the sphingolipidoses. ( 24607565 )
2014
12
Sustained activation of sphingomyelin synthase by 2-hydroxyoleic acid induces sphingolipidosis in tumor cells. ( 23471028 )
2013
13
Metabolic and cellular bases of sphingolipidoses. ( 24256255 )
2013
14
My journey into the world of sphingolipids and sphingolipidoses. ( 23229750 )
2012
15
Kunihiko Suzuki and sphingolipidoses. ( 22130736 )
2011
16
Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses. ( 20616152 )
2010
17
Pathology and current treatment of neurodegenerative sphingolipidoses. ( 20730629 )
2010
18
Arsenic induces oxidative stress, sphingolipidosis, depletes proteins and some antioxidants in various regions of rat brain. ( 18604117 )
2008
19
Rab8-dependent recycling promotes endosomal cholesterol removal in normal and sphingolipidosis cells. ( 17050734 )
2007
20
Recent advances in the biochemistry and genetics of sphingolipidoses. ( 15533650 )
2004
21
A historical perspective of the glycosphingolipids and sphingolipidoses. ( 12803932 )
2003
22
Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients. ( 11934514 )
2002
23
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. ( 11309366 )
2001
24
Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in tissues from sphingolipidosis patients. ( 10491988 )
1999
25
Outlook for screening for sphingolipidoses. ( 10489940 )
1999
26
Recent advances in the biochemistry of sphingolipidoses. ( 9458169 )
1998
27
Therapy for the sphingolipidoses. ( 9708954 )
1998
28
Utility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction. ( 23100874 )
1997
29
Diagnosing sphingolipidoses in murine and human embryos. ( 8473438 )
1993
30
Inhibition of calcium-activated, phospholipid-dependent protein kinase (protein kinase C) activity in sphingolipidoses. ( 1770800 )
1991
31
Feline sphingolipidosis resembling Niemann-Pick disease type C. ( 2127982 )
1990
32
Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses. ( 2514102 )
1989
33
Enzymatic diagnosis of sphingolipidoses. ( 2885713 )
1987
34
Lysosphingolipids inhibit protein kinase C: implications for the sphingolipidoses. ( 3101176 )
1987
35
Lipid storage disease: Part II. Ultrastructural pathology of lipid storage cells in sphingolipidoses. ( 2992227 )
1985
36
Application of "high-performance" liquid chromatography to the study of sphingolipidoses. ( 6773701 )
1980
37
Basic findings and current developments in sphingolipidoses. ( 108196 )
1979
38
Enzymic diagnosis of sphingolipidoses. ( 26837 )
1978
39
Sphingolipidoses: molecular manifestations and biochemical strategies. ( 96198 )
1978
40
Diagnosis of the sphingolipidoses with labelled natural substrates. ( 96667 )
1978
41
Progress in investigations of sphingolipidoses. ( 97916 )
1978
42
Sphingolipidoses. ( 98102 )
1978
43
Clinical and biochemical pathophysiology of ataxia in the sphingolipidoses. ( 104554 )
1978
44
Isolation and characterization of cytoplasmic inclusion bodies from the grey matter of the formalin-fixed brain from new case of generalized sphingolipidosis with failure of myelination. ( 194074 )
1977
45
Sphingolipidoses and allied disorders. ( 132847 )
1976
46
Simple ultra-microtechniques for genetic complementation analysis and early prenatal diagnosis of sphingolipidoses. ( 820166 )
1976
47
Chemical models and chemotherapy in the sphingolipidoses. ( 820172 )
1976
48
Enzyme replacement therapy for the sphingolipidoses. ( 820173 )
1976
49
Specificities of the two genetically distinct beta-galactosidases in human sphingolipidoses. ( 821399 )
1976
50
Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis. ( 803227 )
1975

Variations for Sphingolipidosis

Expression for Sphingolipidosis

Search GEO for disease gene expression data for Sphingolipidosis.

Pathways for Sphingolipidosis

Pathways related to Sphingolipidosis according to KEGG:

37
# Name Kegg Source Accession
1 Sphingolipid metabolism hsa00600
2 Lysosome hsa04142

Pathways related to Sphingolipidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 ARSA ASAH2 CTSA GALC GBA GBA3
2 11.89 ARSA CTSA GALC GBA GLA GLB1
3
Show member pathways
11.8 ARSA ASAH2 CTSA GALC GBA GBA3
4
Show member pathways
11.74 GBA3 GLA GLB1
5
Show member pathways
11.55 GLB1 HEXA HEXB
6
Show member pathways
11.15 GLA HEXA HEXB
7
Show member pathways
10.99 GLB1 HEXA HEXB
8
Show member pathways
10.8 GLB1 HEXA HEXB
9 10.71 GBA GLB1 HEXA HEXB
10
Show member pathways
10.6 NPC1 NPC2

GO Terms for Sphingolipidosis

Cellular components related to Sphingolipidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.88 ARSA BECN1 MCOLN1 NPC1 RAB8A SMPD1
2 lysosomal membrane GO:0005765 9.8 CTSA GBA MCOLN1 NPC1 PSAP SCARB2
3 lysosome GO:0005764 9.8 ARSA CTSA GALC GBA GLA GLB1
4 late endosome membrane GO:0031902 9.63 MCOLN1 NPC1 SCARB2
5 azurophil granule lumen GO:0035578 9.63 ARSA CTSA GLA GLB1 HEXB NPC2
6 azurophil granule GO:0042582 9.43 HEXA HEXB
7 lysosomal lumen GO:0043202 9.4 ARSA CTSA GALC GBA GLA GLB1
8 extracellular region GO:0005576 10.07 ARSA ASAH2 CTSA GLA GLB1 HEXB
9 extracellular exosome GO:0070062 10.07 ARSA CTSA GBA GLA GLB1 HEXA
10 extracellular space GO:0005615 10.02 ARSA GBA GLB1 HEXB NPC2 PSAP

Biological processes related to Sphingolipidosis according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.88 ASAH2 GALC GBA NPC1 NPC2 PSAP
2 neutrophil degranulation GO:0043312 9.8 ARSA CTSA GLA GLB1 HEXB NPC2
3 autophagy GO:0006914 9.78 ARSA BECN1 NPC1 RAB8A
4 carbohydrate metabolic process GO:0005975 9.77 GBA3 GLA GLB1 HEXA HEXB
5 lipid transport GO:0006869 9.74 NPC1 NPC2 PSAP
6 ceramide biosynthetic process GO:0046513 9.61 GBA SMPD1
7 cholesterol transport GO:0030301 9.6 NPC1 NPC2
8 positive regulation of protein dephosphorylation GO:0035307 9.59 GBA SMPD1
9 cholesterol efflux GO:0033344 9.58 NPC1 NPC2
10 low-density lipoprotein particle clearance GO:0034383 9.58 NPC1 NPC2
11 hyaluronan catabolic process GO:0030214 9.56 HEXA HEXB
12 chondroitin sulfate catabolic process GO:0030207 9.55 HEXA HEXB
13 response to pH GO:0009268 9.54 ARSA GBA
14 intracellular cholesterol transport GO:0032367 9.52 NPC1 NPC2
15 sphingosine biosynthetic process GO:0046512 9.51 ASAH2 GBA
16 keratan sulfate catabolic process GO:0042340 9.5 GLB1 HEXA HEXB
17 metabolic process GO:0008152 9.5 GALC GBA GLA GLB1 HEXA HEXB
18 glycoside catabolic process GO:0016139 9.49 GBA3 GLA
19 glycosylceramide catabolic process GO:0046477 9.46 GBA3 GLA
20 sphingolipid metabolic process GO:0006665 9.46 ASAH2 GALC GBA PSAP
21 termination of signal transduction GO:0023021 9.43 GBA SMPD1
22 glycosphingolipid metabolic process GO:0006687 9.32 ARSA CTSA GALC GBA3 GLA GLB1

Molecular functions related to Sphingolipidosis according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.7 ADPRH ARSA ASAH2 CTSA GALC GBA
2 acetylglucosaminyltransferase activity GO:0008375 9.49 HEXA HEXB
3 exo-alpha-sialidase activity GO:0004308 9.46 CTSA GLB1
4 beta-N-acetylhexosaminidase activity GO:0004563 9.43 HEXA HEXB
5 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.43 GLA GLB1 HEXB
6 galactoside binding GO:0016936 9.4 GLA GLB1
7 glucosylceramidase activity GO:0004348 9.37 GBA GBA3
8 beta-galactosidase activity GO:0004565 9.33 GBA3 GLB1 PSAP
9 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.32 HEXA HEXB
10 hydrolase activity, acting on glycosyl bonds GO:0016798 9.17 GALC GBA GLA GLB1 HEXA HEXB
11 protein binding GO:0005515 10.38 ADPRH ARSA BECN1 GBA GBA3 GLA

Sources for Sphingolipidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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